"GeneDx"[submitter] AND "LOC126806629"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57979	GRCh38/hg38 3p24.3-24.2(chr3:19915382-25537973)x3	EFHB, KAT2B +115 more	Copy number gain	See cases	GPathogenic
Select item 1194728	NM_002948.5(RPL15):c.-10-118A>C	LOC126806629, NKIRAS1 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1199763	NM_002948.5(RPL15):c.-10-84T>C	LOC126806629, NKIRAS1 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign

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